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Journal of Autism and Developmental Disorders

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05-02-2022 | Letter to the Editor

Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination

Auteurs: Udayakumar Narasimhan, Abhinayaa Janakiraman, Dedeepya Puskur, Fatima Shirly Anitha, Solomon Franklin Durairaj Paul, Teena Koshy

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 5/2023

Extract

Autism spectrum disorder (ASD) is an increasingly prevalent early onset neurodevelopmental disorder with social communication and interaction impairment and restrictive repetitive behavior (Kliegman, 2020). ASD is unique in terms of severity and also due to the presence of neurodevelopmental, behavioral and medical co-morbidities. The genetic influences of ASD are mainly deletions or duplications in genes primarily involved in early brain development, thereby mainly disrupting neural connectivity. In addition, ASD is associated with genetic syndromes like Fragile X syndrome, Rett syndrome, Down syndrome, Smith-Lemli-Opitz syndrome and Angelman syndrome (Kliegman, 2020). The recommended initial workup of an individual with ASD includes chromosomal microarray, FMR1 gene repeat or methylation analysis for boys and MECP2 gene sequencing for girls, with PTEN gene mutation analysis done if the head circumference is more than 2.5 SD above the mean. In cases where the above studies are negative and the child has other features such as developmental delay and autism, whole exome sequencing is being increasingly utilized as the cost of such testing declines. …

vorige artikel Urban–Rural Disparity in the Incidence of Diagnosed Autism Spectrum Disorder in Taiwan: A 10-Year National Birth Cohort Follow-up Study

volgende artikel Exploratory Study of Parenting Differences for Autism Spectrum Disorder and Attachment Disorder

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Titel: Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination
Auteurs: Udayakumar Narasimhan
Abhinayaa Janakiraman
Dedeepya Puskur
Fatima Shirly Anitha
Solomon Franklin Durairaj Paul
Teena Koshy
Publicatiedatum: 05-02-2022
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 5/2023
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-022-05458-6

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Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination

Extract

Andere artikelen Uitgave 5/2023

What Ability Can Predict Mathematics Performance in Typically Developing Preschoolers and Those with Autism Spectrum Disorder?

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Regulating Together: Emotion Dysregulation Group Treatment for ASD Youth and Their Caregivers

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Welkom bij THIM Hogeschool voor Fysiotherapie & Bohn Stafleu van Loghum

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What Ability Can Predict Mathematics Performance in Typically Developing Preschoolers and Those with Autism Spectrum Disorder?

Childhood Academic Performance: A Potential Marker of Genetic Liability to Autism

Brief Report: Unexpected Bilingualism: A Case of a Russian Child With ASD

Regulating Together: Emotion Dysregulation Group Treatment for ASD Youth and Their Caregivers

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Diagnostic Utility of the Gilliam Autism Rating Scales-3rd Edition Parent Report in Clinically Referred Children